title: Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.
abstract: CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic regions and ethnic backgrounds have been reported until now and no molecular defect has been identified. Here we report two sisters presenting with craniosynostosis, microcephaly, short downslanting palpebral fissures, sparse hair, eyelashes, and eyebrows and porokeratosis that appeared at the age of one month. The youngest sister had an imperforate anus with rectoperineal fistula. Array-CGH did not reveal any pathological CNV. Molecular analysis of the c16orf57, RECQL4 and MCM5 genes was normal.
authors.affiliation: Unité de Génétique Médicale et laboratoire associé INSERM UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Claire
authors.initials: C
authors.lastname: Guissart
authors.forename: Hala
authors.initials: H
authors.lastname: Mégarbané
authors.forename: Bernard
authors.initials: B
authors.lastname: Aral
authors.forename: Charbel
authors.initials: C
authors.lastname: Nassif
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D018797:Cell Cycle Proteins / Q000235:genetics; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D004065:Digestive System Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D017499:Porokeratosis / Q000175:diagnosis / Q000235:genetics*; D053484:RecQ Helicases / Q000235:genetics; D035781:Siblings
chemical_list: D018797:Cell Cycle Proteins; C489423:MCM5 protein, human; C506731:RECQL4 protein, human; D053484:RecQ Helicases
keywords: Abnormal placement of anus; CDAGS; Craniosynostosis; Porokeratosis